University of Milan

From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies

Background: Defining a genetic diagnosis is a challenging and stepwise process, often limited by current knowledge perspectives. Alterations in non-coding RNAs and in their modulating mechanisms are now emerging as one of the main possible explanations underpinning many unsolved...

Prevalence of Mental Disorders in Parents With Intellectual Disabilities: A Systematic Review

ABSTRACT Background Research indicates that an increasing number of adults with intellectual disabilities (IDs) are becoming parents. Parents with ID face multiple challenges that increase their mental health risks. In order to ensure better detection and tailored care for parent...

Deep molecular profiling of lung neuroendocrine tumours and supra-carcinoids

BACKGROUND: Lung neuroendocrine tumours (NETs, also known as carcinoids) are rapidly rising in incidence worldwide but have unknown aetiology and limited therapeutic options beyond surgery. The current WHO classification, based on mitotic count and presence or absence of necrosis...

Quantum estimation theory limits in neutrino oscillation experiments

A bstract Measurements of the Pontecorvo-Maki-Nakagawa-Sakata (PMNS) neutrino mixing parameters have entered a precision era, enabling increasingly stringent tests of neutrino oscillations. Within the framework of quantum estimation theory, we investigate whether flavor measureme...

Reducing dehydration-related readmission after ileostomy creation with a risk-stratified post-discharge pathway

Abstract Purpose Dehydration is one of the most frequent and potentially preventable causes of readmission after ileostomy creation. The clinical value of the Dehydration Readmission After Ileostomy Prediction (DRIP) score depends on whether risk stratification can be translated...

Expert Consensus Develops Multidisciplinary Pathway for Cancer Pain Management in Italy: A Delphi Study

Background: Cancer pain remains highly prevalent and undertreated despite established guidelines. In Italy, Law 38/2010 mandates systematic pain assessment, yet only 26% of clinicians routinely evaluate pain at each clinical visit, and fewer than one-quarter have received formal...

ODIN: Confirmation and 3D Reconstruction of Six Massive Protoclusters at Cosmic Noon

Abstract Protoclusters represent sites of accelerated galaxy formation and extreme astrophysical activity characteristic of dense environments. Identifying massive protoclusters and mapping their spatial structures are therefore crucial for understanding how large-scale environme...

A holistic integrated methodology for multi-layer risk assessment in complex industrial systems

Purpose This research aims to present the Framework for Enhancing Network Integrity eXcellence (FENIX) model, integrating technological, organizational, human, and economic dimensions to enhance risk assessment in complex socio-technical systems. Design/methodology/approach The F...

Exercise Intolerance in Young Physically Active Smokers Compared to Non‐Smokers During Sinusoidal Cycling

ABSTRACT The impact of cigarette smoking on the cardiorespiratory response to exhaustive exercise remains unclear. This study investigated the smoking effect on exercise tolerance by analyzing the cardiorespiratory and metabolic variables during an exhausting sinusoidal exercise...

Mapping the NFYA 3′UTR landscape identifies alternative polyadenylation as a targetable vulnerability in prostate cancer

Abstract Background Alternative polyadenylation (APA) is increasingly recognized as a pervasive oncogenic mechanism that reshapes post-transcriptional gene regulation and promotes tumor aggressiveness. Whether APA contributes to the dysregulation of NFYA —encoding the regulatory...

The power of adaptation: Multilingual localisation of extIPA for clinical phonetics and cross-linguistic speech assessment

The Extensions to the International Phonetic Alphabet (extIPA) support clinical transcription of atypical and disordered speech, but their chart metalanguage is primarily available in English. This article presents a feasibility study of multilingual extIPA localisation as clinic...

Should I stay or should I go? Frog breeding responses to drought events and alien predators

Abstract Climate change is a major driver of biodiversity loss worldwide, increasingly acting through extreme climatic events such as droughts. Beyond their direct impacts on habitat availability, droughts can also generate indirect effects by altering ecological interactions, su...

Benchmarking generative AI tools for literature retrieval and summarization in genomic variant interpretation

Abstract Background Generative AI is increasingly used to extract structured information across domains, but its reliability in academic and clinical research, where precision and accuracy are essential, remains largely unexplored. This study evaluates the ability of Large Langua...

Snow microinvertebrates from lowlands, high mountains and the Arctic—implications for conservation efforts

Abstract The protection of cryospheric ecosystems and their biota cannot be properly defined without a detailed species inventory. Snow microinvertebrates are crucial for estimating cryophilic biodiversity, yet they are poorly described at broader spatial scales. To fill this kno...

Single‐stage regenerative approach for persistent RT3 gingival recession following orthodontic improvement of tooth position

Abstract Background Management of gingival recession type 3 (RT3) defects remains a clinical challenge due to interproximal attachment loss and soft tissue deficiency. This case report describes a regenerative strategy for a malpositioned anterior tooth presenting with severe rec...

Misperceptions of charismatic species' conservation status: Zoo visits and virtual exposure shape perceptions of extinction risk

Abstract Biodiversity loss is accelerating globally, yet species are not equally affected, and public perceptions of extinction risk often diverge from scientific assessments. Understanding what shapes public perceptions is critical for effective conservation communication, parti...

European S2k guidelines for hidradenitis suppurativa/acne inversa Part 1. Epidemiology, diagnosis and clinical assessment

BACKGROUND: This first part of the S2k guidelines is an update of the 2015 S1 European guidelines based on the structured assessment of clinically relevant topics by the panel of experts. It is complemented by Part 2, which deals with treatments. OBJECTIVES: These guidelines aim...

A systematic review of divine forgiveness self-report measures

Abstract Background Divine forgiveness (DF) can be defined as the perception of being absolved from sin by a Higher Power. Psychological research is increasingly recognizing DF as a relevant construct with implications for well-being, coping, and spirituality. Despite this growin...

Effects of immersive training on sports perceptual-cognitive skills: A systematic literature review

Immersive training using virtual reality (VR), 360° video, and CAVE environments shows potential for enhancing perceptual-cognitive skills in sports; however, evidence remains limited and methodologies heterogeneous. This systematic review synthesised quantitative controlled inte...

Cell senescence emerges as a hallmark and therapeutic target of chronic intracellular infection

<title>Abstract</title> Intracellular pathogens are ideal candidates for modelling the pathophysiology of chronic infection, as they hide within host cells and avoid conventional immune clearance through a controlled reshaping of cellular fate. This study unveils how the emerging...